Case files 3 Flashcards

1
Q

2 big signs of DMD

A

Waddling gait and progressive proximal muscle weakness (pushes off floor to stand up –> Gower sign)

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2
Q

2 initial DMD tests

A

Serum CK (elevated from muscle destruction)
DNA analysis of blood
Serum CK can also be elevated in females who are carriers

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3
Q

When does DMD begin to act

A

3-5 years, normal before that

Wheelchair dependent by 10-13 years

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4
Q

All DMD patients have some degree of? What is often the cause of death?

A

Cardiomyopathy

Respiratory failure is often the cause of death

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5
Q

Atopic dermatitis features

A

Pruritic, recurrent, and flexural in older children and symmetrical in adults

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6
Q

3 waves of AD

A

Infant: 12 - near onset of puberty

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7
Q

Seborrheic dermatitis limited to? Tx?

A

Areas of the skin with high concentrations of sebaceous glands (cradle cap)
Tx is ketoconazole
Brown and not weepy like AD

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8
Q

Why are fluorinated steroids avoided on face

A

May depigment and thin the skin

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9
Q

Kid with hives likely etiology

A

Recent antibiotic use

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10
Q

Cutaneous herpes simplex in infants likely found in

A

Areas or recently healed or active atopic dermatitis

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11
Q

Thrombocytopenia, Immunodef, and eczema

A

Wiskott-Aldrich

look for infections and bleeding in first six months of life

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12
Q

Baseline therapy for atopic dermatitis

A

Avoidance of drying soaps and replenishment of skin hydration with emollients
steroids may be added

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13
Q

Paraneoplastic syndrome related to

A

tumor production of catecholamines and VIP

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14
Q

What is a neuroblastoma made of? Where does it met?

A

Primitive neuroendocrine tissue

Mets to long bones, skull, lymph nodes, liver, and skin

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15
Q

Blueish skin in neuroblastoma in infant represents? Other major sign

A

Subcutaneous infiltration

**Raccoon eyes: proptosis and bluish periorbital discoloration

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16
Q

Wilms tumor features

A

Hematuria, hypertension, and localized abdominal mass that RARELY crosses the midline (unlike neuroblastoma - generally younger and sicker)

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17
Q

Neuroblastoma labs

A

Elevated VMA and HVA levels

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18
Q

Palpable abdominal mass in newborn likely

A

Hydrfonephrotic or multi cystic dysplastic kidney –> US for workup and dx

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19
Q

In baby intestinal obstruction (bilious vomiting), distention, blood per rectum and lethargy likely? Next step?

A

Malrotation with volvulus

Call surgery to remove necrotic bowel and reperfuse

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20
Q

Most common site for intussesception

A

Ileocolic portion of bowel

Ligament of treitz attaches to right side instead of normal left

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21
Q

Electrolyte levels in hypertrophic pyloric stenosis

A

hypochloremic metabolic alkalosis

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22
Q

What distinguishes NEC from malrotation

A

Pneumatosis intestinal (air in wall of the small bowel)

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23
Q

Current jelly stools in kid

A

Intussusception

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24
Q

Most common cause of severe urinary tract obstruction in boys? Workup?

A

Posterior urethral valves

Workup: Voiding cystourethrogram or USG and bladder cath, surgery after stabilization

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25
Q

Test for any young male(

A

Anatomic workup

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26
Q

PUV risks

A

25%-30% risk of ESRD

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27
Q

Injury when child pulled by arm and holds arm close to body with elbow in flexed position? what else will child do

A

Subluxation of the radial head (occurs when sudden traction on extended arm)
Child will also resist passive movement of the arm

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28
Q

How will child hold arm in subluxation of the radial head? PE?

A

Will hold the affected arm close to their body with the elbow flexed and forearm pronated
Absence of bony tenderness and swelling on exam

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29
Q

Tx for subluxation of the radial head

A

Supinating the child’s forearm with the elbow in flexed position while applying pressure over the radial head
If not successful after 2-3 tries, XRAY

30
Q

First steps to examen suspected physical abuse

A

H&P and skeletal survey (to asses new and old injuries)

If further questions remain - call CPS

31
Q

TTP pentad

A

Fever, microangiopathic hemolytic anemia, abnormal renal function, CNS changes

32
Q

Most common thrombocytopenia in an otherwise well child usually aged 2-4 years? From what

A

ITP

Probs immunologic etiology triggered by a preceding viral inlines with following autoantibody development.

33
Q

ITP bone marrow exam? Most serous ITP complication

A

Shows increased number of megakaryoctes

Most serious complication is intracranial hemorrhages (

34
Q

Vaccine to use cautiously in ITP patients

A

MMR (known to cause thrombocytopenia)

35
Q

First steps in suspected ITP

A

Physical exam and blood smear

36
Q

Peripheral smear of HUS shows

A

Helmet cells, Burr cells, and fragmented RBCs

37
Q

Long bone fracture that is ass with inflicted injury

A

“Bucket handle fracture” or classic metaphysical lesion and spongiosa region of the ends of long bones, looks like bone fragments

38
Q

Fundoscopic exam for shaken baby syndrome may show

A

Retinal hemorrhages

39
Q

Most common form of child abuse

A

Neglect

40
Q

Bruise areas less likely to be accidental trauma

A

Abdomen, face, neck, butt, thighs, inner arm

41
Q

How do intentional hot water burns usually look

A

Sharply demarcated border or “stocking glove” distribution

42
Q

OI mutation

A

COL1A1 or A2 of type 1 collagen

43
Q

Kawasaki other name

A

Mucocutaneous lymph node syndrome

44
Q

“Classic” Kawasaki’s

A

5 day son fever and 4 of: Bi conjunctivitis, oral involvement/erythema, generalized rash, edema of extremities/redness, cervical lymphadenopathy

45
Q

Labs of Kawasaki’s? tx?

A

Elevated ESR and CRP, normocytic anemia, leukocytosis, thrombocytosis
High does aspirin and IVIG

46
Q

Scarlett fever rash

A

Sandpaper like with streaks of linear petechiae on flexural areas

47
Q

Who do you call for suspected Kawasaki’s

A

Cardiology

48
Q

HIV mom has what chance to pass to infant if no therapy

A

25%

49
Q

HIV test for patients under 18 months

A

HIV DNA PCR testing (two assays on two separate occasions)

50
Q

HIV ppx for babies if no AZT given during pregnancy

A

Nevirapine

51
Q

Leukocyte adhesion def findings

A

Recurring sinopulmonary, oropharyngeal, and cutaneous infections with delayed wound healing

52
Q

When do klinefelter’s patients often get diagnosed? Should be considered for what folks

A

Puberty - from subtleness of clinical findings

For all boys who have been identified with ID, psychosocial, school, or adjustment problems

53
Q

XYY male findings

A

Explosive tempers, long and asymmetrical ears, increased length for hands and feet
Mild pectus excavatum

54
Q

Fragile X findings

A

Males with ID and macrocephaly, long face, high arched palate, large ears, and macroorchidism after puberty

55
Q

First two steps in DKA

A

IV fluids and IV insulin administration

56
Q

How do you measure true serum Na in DKA

A

Add 1.6 mEq/L for every 100 mg/DdL of serum glucose above the normal range
Hyponatremia seen can be dilutional from increased serum glucose

57
Q

When to give dextrose in DKA

A

When serum glucose drops to 250-300 range to prevent inadvertent hypoglycemia

58
Q

Biggest complication of DKA

A

Cerebral edema

59
Q

Why do you continue insulin in DKA when hyperglycemia is corrected

A

Hyperglycemia gets corrected sooner than acidosis, continue insulin until gap is closed

60
Q

OSA risk factor for what CV issues? Theory why?

A

Left and right ventricular hypertrophy and elevated BP

Possible up regulation of inflammatory markers (elevated CRP)

61
Q

What is primary snoring

A

Snoring without associated respiratory disturbances

62
Q

Most common cause of younger kids OSA? older?

A

Adenotonsillar hypertrophy, obesity in older

63
Q

What is seen in adult OSA but not as much in kids

A

Excessive daytime sleepiness

64
Q

Growth rate in first year of life

A

23-28 cm a year

65
Q

Common cause of short stature

A

Constitutional growth delay - “bone age = height age” or normal growth rate, just short
One parent had late onset puberty

66
Q

GH def features

A

Growth just drops off, boys appear chubby (weight continues normally)

67
Q

What does true precocious puberty stem from? Ages seen?

A

Secretion of hypothalamic GnRH with normal but early appearing progression of pubertal events
Before 8 in girls and 9 in boys

68
Q

Major cause of precocious puberty in boys? Girls?

A

Structural CNS abnormality in 25-75% of boys

Idiopathic in 90% of girls

69
Q

Goal of treating precocious puberty

A

To prevent premature closure of the epiphysis, allowing the child to reach full adult growth potential

70
Q

Drug for precocious puberty

A

GnRH agonists (best in rapidly progressing central precocious puberty)